Cryptorchidism, and Cleft upper lip

Diseases related with Cryptorchidism and Cleft upper lip

In the following list you will find some of the most common rare diseases related to Cryptorchidism and Cleft upper lip that can help you solving undiagnosed cases.


Top matches:

Medium match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Medium match HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA; HH3


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of autosomal hypogonadotropic hypogonadism with or without anosmia, see {147950}.

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA; HH3

Medium match OROFACIAL CLEFT 15; OFC15


Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Low-set ears
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 15; OFC15

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Other less relevant matches:

Medium match POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME


Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.

POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME Is also known as pallister-hall syndrome 2, formerly|culler-jones syndrome|phs2, formerly

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME

Medium match POPLITEAL PTERYGIUM SYNDROME; PPS


POPLITEAL PTERYGIUM SYNDROME; PPS Is also known as cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies|faciogenitopopliteal syndrome

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Flexion contracture
  • Abnormality of the skeletal system
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about POPLITEAL PTERYGIUM SYNDROME; PPS

Medium match X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE


X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE Is also known as siderius-hamel syndrome|mental retardation, x-linked, syndromic, siderius type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Cleft palate
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE

Medium match HYDROLETHALUS


Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Low-set ears
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about HYDROLETHALUS

Medium match AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME


Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.

AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME Is also known as facio-genito-popliteal syndrome|popliteal web syndrome

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Thin upper lip vermilion


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME

Medium match ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME


Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

Medium match STEINERT MYOTONIC DYSTROPHY


Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.

STEINERT MYOTONIC DYSTROPHY Is also known as dm1|md1|myotonic dystrophy type 1|steinert disease

Related symptoms:

  • Strabismus
  • Muscular hypotonia
  • Cataract
  • Cryptorchidism
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about STEINERT MYOTONIC DYSTROPHY

Top 5 symptoms//phenotypes associated to Cryptorchidism and Cleft upper lip

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Cleft lip Uncommon - Between 30% and 50% cases
Midface retrusion Uncommon - Between 30% and 50% cases
Bilateral cleft lip Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cryptorchidism and Cleft upper lip. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Bilateral cleft lip and palate Polydactyly Oral cleft Micropenis Scrotal hypoplasia Micrognathia Hydrocephalus

Rare Symptoms - Less than 30% cases


Global developmental delay Microphallus Abnormality of cardiovascular system morphology Agenesis of corpus callosum Scoliosis Postaxial polydactyly Holoprosencephaly Ambiguous genitalia Deeply set eye Popliteal pterygium Abnormality of the skeletal system Fibrous syngnathia Syndactyly Toe syndactyly Bifid uvula Micromelia Bifid scrotum Hypoplastic labia majora Ankyloblepharon Intellectual disability Non-midline cleft lip Upslanted palpebral fissure Abnormal facial shape Pes planus Autistic behavior Seizures Atrial septal defect Strabismus Short stature Hypotelorism Hypogonadism Hip dislocation Abnormality of the respiratory system Facial palsy Intellectual disability, progressive Anencephaly Submucous cleft hard palate EMG abnormality Absent septum pellucidum Arrhinencephaly Anophthalmia Laryngomalacia Premature birth Postaxial hand polydactyly Myotonia Mask-like facies Abnormality of the endocrine system Testicular atrophy Low-set, posteriorly rotated ears Retrognathia Abnormality of the upper urinary tract Polyhydramnios Abnormal hair quantity Microphthalmia First degree atrioventricular block Long toe Thoracic kyphosis Slender finger Unilateral cleft lip Abnormality of the fallopian tube Abnormality of the sense of smell Wide intermamillary distance Brachydactyly Wide nasal bridge Ventriculomegaly Malar flattening Hypospadias Abnormality of the pinna Sandal gap Nonketotic hyperglycinemia Muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Adrenal hypoplasia Depressed nasal tip Barrel-shaped chest Shield chest Ulnar deviation of the hand Lip pit Large hands Ulnar deviation of the hand or of fingers of the hand Hypertonia Tracheal atresia Gingival cleft Thin upper lip vermilion Joint stiffness Finger syndactyly Specific learning disability Abnormality of the ribs Generalized hirsutism Choanal atresia Intellectual disability, severe Split hand Abnormality of the nail Respiratory distress Skeletal muscle atrophy Cataract Preaxial hand polydactyly Abnormality of the scrotum Preaxial polydactyly Ectropion of lower eyelids Bulbous nose Single transverse palmar crease Sparse eyelashes Sparse eyebrow Ectropion High anterior hairline Euryblepharon Hernia Bilateral cleft palate Agenesis of lateral incisor Palate fistula Hyponasal speech Growth delay Pain Depressed nasal bridge Protruding ear Epicanthus Abdominal pain Thin vermilion border Generalized hypotonia Microcephaly Feeding difficulties Abnormality of the dentition Patent ductus arteriosus Hypermetropia Coarctation of aorta Hypertelorism Hearing impairment Sensorineural hearing impairment Pectus excavatum Primary amenorrhea Hypogonadotrophic hypogonadism Anosmia Unilateral renal agenesis Delayed skeletal maturation Growth hormone deficiency Prominent supraorbital ridges Intellectual disability, mild Hypoplasia of the vagina Lower lip pit Absent scrotum Intercrural pterygium Pyramidal skinfold extending from the base to the top of the nails Delayed speech and language development Autism Cutaneous finger syndactyly Synophrys Long face Broad nasal tip Decreased testicular size Sloping forehead Low posterior hairline Nasal speech Labial hypoplasia Hypoplasia of the uterus Depressed nasal ridge Anterior pituitary hypoplasia Bilateral cryptorchidism Diabetes insipidus High pitched voice Hypopituitarism Poor appetite Panhypopituitarism Adrenocorticotropic hormone deficiency Bilateral postaxial polydactyly Pterygium Ectopic posterior pituitary Flexion contracture Talipes equinovarus Dementia Overgrowth Abnormality of the genital system Spina bifida occulta Hernia of the abdominal wall



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